SBDS · rs79344818
Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.
What the study found
Who was studied 10,708 European ancestry individuals.
The effect Each copy of the A allele shifted the measure 1.26 lower (95% confidence interval 1.19-1.32); p = 4 × 10−323.
How common The A allele had a frequency of about 96% in the people studied.
Where it sits Chromosome 7, band 7q11.21 — a missense change in SBDS.
What ClinVar records
Classification
Benign/Likely benign for Shwachman-Diamond syndrome 1, Inborn genetic diseases, Aplastic anemia; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 16 submitters), last evaluated 2026-01-22.
ClinVar record 21543 NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
Classification
Uncertain significance for Inborn genetic diseases; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-12-21.
ClinVar record 3157979 NM_016038.4(SBDS):c.635T>G (p.Ile212Ser)
What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
rs79344818 is a single position in the genome, in or near the SBDS gene. Published research associates it with cyclin-dependent kinases regulatory subunit 1 levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
GWAS Catalog, Science (New York, N.Y.) 2021, PMID:34648354. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Cyclin-dependent kinases regulatory subunit 1 levels (rs79344818). MyGeneLog™. https://www.mygenelog.com/variants/rs79344818